{"id":"https://openalex.org/W2124599018","doi":null,"title":"Deregulated apoptosis is a hallmark of the Fanconi anemia syndrome.","display_name":"Deregulated apoptosis is a hallmark of the Fanconi anemia syndrome.","publication_year":1997,"publication_date":"1997-05-01","ids":{"openalex":"https://openalex.org/W2124599018","mag":"2124599018","pmid":"https://pubmed.ncbi.nlm.nih.gov/9135015"},"language":"en","primary_location":{"id":"pmid:9135015","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9135015","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer research","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109525273","display_name":"A Ridet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I2738703131","display_name":"Commissariat \u00e0 l'\u00c9nergie Atomique et aux \u00c9nergies Alternatives","ror":"https://ror.org/00jjx8s55","country_code":"FR","type":"government","lineage":["https://openalex.org/I2738703131"]},{"id":"https://openalex.org/I80043","display_name":"Institut Curie","ror":"https://ror.org/04t0gwh46","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I80043"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A Ridet","raw_affiliation_strings":["UMR218 du Centre National de la Recherche Scientifique, Institut Curie, Section de Recherche, LRC no. 1 du CEA, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UMR218 du Centre National de la Recherche Scientifique, Institut Curie, Section de Recherche, LRC no. 1 du CEA, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I2738703131","https://openalex.org/I80043"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083480115","display_name":"Christel Guillouf","orcid":"https://orcid.org/0000-0001-7013-3149","observed_orcids":["https://orcid.org/0000-0001-7013-3149"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Guillouf","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028680338","display_name":"\u00c9ric Duchaud","orcid":"https://orcid.org/0000-0003-3353-4714","observed_orcids":["https://orcid.org/0000-0003-3353-4714"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Duchaud","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079101633","display_name":"Enrico Cundari","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Cundari","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068813075","display_name":"Mario Fiore","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Fiore","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041927531","display_name":"Ethel Moustacchi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Moustacchi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5007664834","display_name":"Filippo Rosselli","orcid":"https://orcid.org/0000-0003-1080-5745","observed_orcids":["https://orcid.org/0000-0003-1080-5745"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Rosselli","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.2822,"has_fulltext":false,"cited_by_count":78,"citation_normalized_percentile":{"value":0.89370774,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"57","issue":"9","first_page":"1722","last_page":"30"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.7559000253677368,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.7559000253677368,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10294","display_name":"Cell death mechanisms and regulation","score":0.18930000066757202,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.020999999716877937,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fanconi-anemia","display_name":"Fanconi anemia","score":0.9769999980926514},{"id":"https://openalex.org/keywords/apoptosis","display_name":"apoptosis","score":0.765999972820282},{"id":"https://openalex.org/keywords/fas","display_name":"Fas","score":0.7200000286102295},{"id":"https://openalex.org/keywords/mitomycin-c-hypersensitivity","display_name":"mitomycin C hypersensitivity","score":0.8659999966621399},{"id":"https://openalex.org/keywords/dna-cross-linking","display_name":"DNA cross-linking","score":0.6809999942779541},{"id":"https://openalex.org/keywords/bone-marrow-failure","display_name":"bone marrow failure","score":0.7360000014305115},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.6819999814033508},{"id":"https://openalex.org/keywords/tnf-receptor-superfamily","display_name":"TNF receptor superfamily","score":0.7129999995231628},{"id":"https://openalex.org/keywords/genetic-complementation","display_name":"gene complementation","score":0.6039999723434448}],"concepts":[{"id":"https://openalex.org/C2778124228","wikidata":"https://www.wikidata.org/wiki/Q845779","display_name":"Fanconi anemia","level":4,"score":0.8359084725379944},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.8156112432479858},{"id":"https://openalex.org/C2780525284","wikidata":"https://www.wikidata.org/wiki/Q7882181","display_name":"Bone marrow failure","level":4,"score":0.6426075100898743},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5775146484375},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.4917486011981964},{"id":"https://openalex.org/C3031857","wikidata":"https://www.wikidata.org/wiki/Q1649375","display_name":"Fas receptor","level":4,"score":0.4797745645046234},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.46845483779907227},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.4133046269416809},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.32919561862945557},{"id":"https://openalex.org/C31573885","wikidata":"https://www.wikidata.org/wiki/Q304484","display_name":"Programmed cell death","level":3,"score":0.31871122121810913},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2895457148551941},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24968767166137695},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.17527833580970764},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.16696637868881226},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.11822342872619629}],"mesh":[{"descriptor_ui":"D002453","descriptor_name":"Cell Cycle","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005720","descriptor_name":"Gamma Rays","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000528","qualifier_name":"radiation effects","is_major_topic":false},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D016685","descriptor_name":"Mitomycin","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D017209","descriptor_name":"Apoptosis","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":true},{"descriptor_ui":"D017209","descriptor_name":"Apoptosis","qualifier_ui":"Q000528","qualifier_name":"radiation effects","is_major_topic":true},{"descriptor_ui":"D018797","descriptor_name":"Cell Cycle Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019014","descriptor_name":"fas Receptor","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053938","descriptor_name":"DNA Fragmentation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:9135015","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9135015","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer research","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:hal-04039367v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-04039367","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Cancer Research, 1997, 57 (9), pp.1722-30","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W140561711","https://openalex.org/W314622296","https://openalex.org/W804453397","https://openalex.org/W1501957186","https://openalex.org/W1548728346","https://openalex.org/W1549538719","https://openalex.org/W1592647854","https://openalex.org/W1874985227","https://openalex.org/W1934523516","https://openalex.org/W1963688949","https://openalex.org/W1977707442","https://openalex.org/W1984696190","https://openalex.org/W1988681593","https://openalex.org/W1991619717","https://openalex.org/W1997104526","https://openalex.org/W1999244681","https://openalex.org/W2003618279","https://openalex.org/W2013013047","https://openalex.org/W2020733732","https://openalex.org/W2027319904","https://openalex.org/W2029026115","https://openalex.org/W2029222548","https://openalex.org/W2029491803","https://openalex.org/W2032712154","https://openalex.org/W2041466047","https://openalex.org/W2042628846","https://openalex.org/W2060916879","https://openalex.org/W2065417936","https://openalex.org/W2087831931","https://openalex.org/W2095400027","https://openalex.org/W2116690382","https://openalex.org/W2148911589","https://openalex.org/W2161490853","https://openalex.org/W2220682151","https://openalex.org/W2414009289","https://openalex.org/W2884367205"],"related_works":["https://openalex.org/W1985483532","https://openalex.org/W68038747","https://openalex.org/W1548728346","https://openalex.org/W314622296","https://openalex.org/W2073271130","https://openalex.org/W153145573","https://openalex.org/W2080311704","https://openalex.org/W1884725437","https://openalex.org/W2006534310","https://openalex.org/W1788745063"],"abstract_inverted_index":{"Fanconi":[0],"anemia":[1],"(FA)":[2],"is":[3,45,70,97,103,117],"a":[4,57,75,104,178],"genetic":[5,85],"human":[6],"disorder":[7],"associated":[8],"with":[9,189],"bone":[10],"marrow":[11],"failure":[12],"and":[13,23,31,93,116,157,161],"predisposition":[14],"to":[15,34,55,100,109],"cancer.":[16],"FA":[17,67,81,136,166,174,190],"cells":[18,82],"show":[19,122],"poor":[20],"growth":[21],"capacity":[22],"spontaneous":[24,79],"chromosomal":[25,32],"anomalies":[26,158],"as":[27,29,39,176],"well":[28],"cellular":[30],"hypersensitivity":[33,96,156],"DNA":[35,126],"cross-linking":[36],"agents":[37],"such":[38,56],"mitomycin":[40],"C":[41],"(MMC).":[42],"Because":[43],"it":[44],"likely":[46],"that":[47],"disruption":[48],"of":[49,63,78,125,133,148,184],"the":[50,61,66,110,128,131,139,149,154,173,182,198],"apoptotic":[51,199],"control":[52,132,183],"would":[53],"lead":[54],"phenotype,":[58],"we":[59],"investigated":[60],"implication":[62],"apoptosis":[64,92,134,160],"in":[65,90,119,130,135,159,165,181],"syndrome.":[68],"It":[69],"shown":[71],"that,":[72,123],"although":[73],"demonstrating":[74],"high":[76],"frequency":[77],"apoptosis,":[80],"from":[83],"four":[84],"complementation":[86],"groups":[87],"are":[88],"deficient":[89],"gamma-ray-induced":[91],"their":[94],"MMC":[95,155],"not":[98],"due":[99],"apoptosis.":[101,120,185],"Fas":[102,143],"cell":[105,162],"surface":[106],"receptor":[107,114],"belonging":[108],"tumor":[111],"necrosis":[112],"factor":[113],"family":[115],"involved":[118],"We":[121],"independently":[124],"damage,":[127],"alteration":[129],"concerns":[137],"also":[138],"pathway":[140],"initiated":[141],"by":[142],"activation.":[144],"Finally,":[145],"ectopic":[146],"expression":[147],"wild-type":[150],"FAC":[151],"gene":[152],"corrects":[153],"cycle":[163],"response":[164],"cells.":[167],"Altogether,":[168],"these":[169],"findings":[170],"strongly":[171],"implicate":[172],"genes":[175],"playing":[177],"major":[179],"role":[180],"Thus,":[186],"further":[187],"studies":[188],"syndrome":[191],"will":[192],"be":[193],"instrumental":[194],"toward":[195],"molecularly":[196],"dissecting":[197],"pathways.":[200]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}